A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469785



Internal ID15187814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16127738..16284512hg38UCSC Ensembl
Innerchr16:16221595..16378369hg19UCSC Ensembl
Innerchr16:16129096..16285870hg18UCSC Ensembl
Innerchr16:16187949..16344723hg16UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38156775
hg19156775
hg18156775
hg16156775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676229, nssv1674922, nssv1673460
Samples
Known GenesABCC1, ABCC6, NOMO3
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469785
Frequency
Sample Size265
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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